Table 2 The summary of reported cases of ADPRHL2-related neurodegenerative disorder and also a comparison with the present study
Study | Nationality of family | Number of patients | Sex (F/M) | Phenotype | Exon | Mutation | MRI findings |
|---|---|---|---|---|---|---|---|
Ghosh et al. | United Arab Emirates | 9 | 4F, 5 M | Childhood-onset, delayed motor development, impaired speech, intellectual disability (ID), stress-induced neurodegeneration, ataxia and seizures, progressive weakness, hypotonia with repeated pneumonia and cardiac arrest, ventilator-dependent at time of death, severe kyphoscoliosis, normal hearing but then developed severe sensorineural hearing loss (SNHL), profound type II muscle fiber atrophy | Exon 6 | c.1000C > T | Mild cerebellar atrophy |
Italy | 1 | 1 M | Childhood-onset, slow speech, normal motor development but then deteriorated by 2 years, stress-induced neurodegeneration, ataxia, and seizures, normal intellect but then started deteriorating at age 11 years, myopathic changes on muscle biopsy (at age of 11 years) | Exon 3 | c.316C > T | Cerebellar vermis atrophy | |
Turkey | 1 | 1F | Childhood-onset, normal speech, motor and intellectual development, stress-induced neurodegeneration, ataxia, and seizures, claw hand and pes cavus deformities, scoliosis, SNHL at 10 years, tracheotomy, ventilator support | Exon 2 | c.235A > C | Mild cerebellar atrophy, spinal cord atrophy | |
Pakistan | 2 | 2F | Childhood-onset, normal speech and motor development but then deteriorated by 2 years, mild ID, stress-induced neurodegeneration, ataxia, and seizures, asthma | Exon 3 | 5-bp (c.414- 418delTGCCC) | Mild cerebellar atrophy | |
Iran | 2 | 1F, 1 M | Childhood-onset, speech only a few words, normal motor development but then deteriorated, normal intellect but then stagnated, stress-induced neurodegeneration, ataxia and seizures, progressive weakness, tremors, frequent falling, progressive external ophthalmoplegia | Exon 4 | c.530C > T | Female: normal (3 years) Male: N/A | |
Turkey | 1 | 1F | Childhood-onset, normal motor but delayed speech development, mild ID, stress-induced neurodegeneration, ataxia and seizures, distal muscle atrophy, pes cavus deformity, toe abnormality, scoliosis, brisk deep tendon reflexes (DTRs), positive Babinski reflex, intentional tremor | Exon 1 | c.100G > A | Mild cerebellar vermis atrophy, spinal cord atrophy | |
|  | Germany | 2 | 1F, 1 M | Childhood-onset, developmental delay, and ID, stress-induced neurodegeneration, gait abnormalities, ataxia and seizures, facial myoclonia, diplopia, neuropathy, respiratory insufficiency | Exon 6 | c.1004 T > G | Male: N/A, Female: Basal ganglia, cortex and cerebellum involvement |
Lebanon | 1 | 1F | Childhood-onset, developmental delay, and ID, stress-induced neurodegeneration, gait abnormalities, ataxia and seizures, neuropathy, facial myoclonia, nystagmus, respiratory insufficiency | Exon 5 | c.744_746del | Corpus callosum, basal ganglia, cortex and cerebellum involvement | |
N/A | 1 | 1F | Childhood-onset, developmental delay, and ID, stress-induced neurodegeneration, gait abnormalities, ataxia and seizures, neuropathy, SNHL, strabismus, microcephaly | Exon 6 | c.1038C > G | Corpus callosum and cerebellum involvement | |
Danhauser et al. | N/A | 2 | 1F, 1 M | Childhood-onset, stress-induced neurodegeneration with variable ataxia, gait abnormalities, nystagmus, strabismus, respiratory insufficiency | Exon 6 | c.1004 T > G | Cerebellum involvement |
Kosovo | 1 | 1 M | Childhood-onset, developmental and intellectual impairment, stress-induced neurodegeneration, ataxia, gait abnormalities, putative external ophthalmoplegia with ptosis, impaired saccades, and upward gaze and nystagmus, putative retinal pigment epithelium anomalies, neuropathy, microcephaly | Exon 6 | c.1004 T > G | Cerebellum involvement | |
Poland | 1 | 1F | Childhood-onset, developmental delay and ID, stress-induced neurodegeneration, ataxia and seizures, gait abnormalities, neuropathy | Exon 6 | c.1004 T > G | N/A | |
China | 2 | 2F | Childhood-onset, developmental delay, and ID, stress-induced neurodegeneration, ataxia and seizures, gait abnormalities, neuropathy, respiratory insufficiency | N/A | c.309-1G > T | Cerebellum involvement | |
Turkey | 2 | 1F, 1 M | Childhood-onset, developmental delay, and ID, stress-induced neurodegeneration, ataxia and seizures, gait abnormalities, microcephaly, respiratory insufficiency | Exon 2 | c.292delG | Male: Basal ganglia involvement | |
The Present study | Iran | 1 | 1F | Childhood-onset, normal development at first, stress-induced neurodegeneration, frequent falling down, imbalance gait and ataxia, general motor weakness and truncal hypotonia, focal seizures, impaired speech, and progressive, severe abdominal distension and GI intolerance, cardiorespiratory problems, SNHL | Exon 4 | c.636_639del | Mild supratentorial atrophy, progressive cerebral and cerebellar atrophy |